IDUA gene mutation analysis and prenatal diagnosis of two families affected with mucopolysaccharidosis type I.
- VernacularTitle:两个粘多糖贮积症Ⅰ型家系IDUA基因的突变分析及产前诊断
- Author:
Xinyu YANG
1
;
Shiyue MEI
;
Xiangdong KONG
;
Zhenhua ZHAO
;
Aojie CAI
;
Jiameng YAO
;
Yiying LI
;
Zhi QIN
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Base Sequence; Child; Child, Preschool; China; DNA Mutational Analysis; Female; Fetal Diseases; diagnosis; genetics; Heterozygote; Humans; Iduronidase; genetics; Male; Molecular Sequence Data; Mucopolysaccharidosis I; diagnosis; embryology; genetics; Pedigree; Pregnancy; Prenatal Diagnosis; Sequence Deletion
- From: Chinese Journal of Medical Genetics 2017;34(3):347-351
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze mutations of IDUA gene in two pedigrees affected with mucopolysaccharidosis type I and provide prenatal diagnosis for them.
METHODSThe 14 exons of the IDUA gene were subjected to PCR amplification and Sanger sequencing.
RESULTSFor pedigree 1, the proband was found to harbor compound heterozygous mutations c.46-57delTCGCTCCTGGCC (p.Ser16_Ala19del) of exon 1 and c.1147delC (p.Arg383Alafs*57) of exon 8 of the IDUA gene, which were inherited from his father and mother, respectively. The latter was unreported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.46-57delTCGCTCCTGGCC mutation. For family 2, the proband was also found to carry compound mutations of the IDUA gene, namely c.721T to C (p.Cys241Arg) of exon 6 and c.1491delG (p.Thr497fs27) of exon 8, which were inherited from her mother and father, respectively. Neither mutation was reported previously. Prenatal diagnosis suggested that the fetus has carried a heterozygous c.721T to C mutation.
CONCLUSIONMutations of the IDUA gene probably underlie the MPS-I in both pedigrees. Above results have enriched the spectrum of IDUA gene mutations and facilitated prenatal diagnosis for both families.
